USP8 - ubiquitin specific peptidase 8 Gene

Also Known as UBPY; PITA4; SPG59; HumORF8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9101

About USP8

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,424,405-50,514,421 (from NCBI)

This gene has 19 transcripts (splice variants), 202 orthologues, 71 paralogues and is associated with 81 phenotypes. Ubiquitous expression in testis (RPKM 16.5), thyroid (RPKM 12.8) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USP8 Products (3)

mRNA	Protein	Name
NM_001128610.3	NP_001122082.1	ubiquitin carboxyl-terminal hydrolase 8 isoform a
NM_001283049.2	NP_001269978.1	ubiquitin carboxyl-terminal hydrolase 8 isoform b
NM_005154.5	NP_005145.3	ubiquitin carboxyl-terminal hydrolase 8 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables K48-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	16520378	GOA
enables K63-linked deubiquitinase activity	IDA IDA: Inferred from direct assay	16520378	GOA
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	16520378	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	18388320	GOA
involved in negative regulation of lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	27444016	GOA
involved in positive regulation of amyloid fibril formation	IMP IMP: Inferred from mutant phenotype	27444016	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	20495530	GOA
involved in protein K48-linked deubiquitination	IDA IDA: Inferred from direct assay	16520378	GOA
involved in protein K63-linked deubiquitination	IDA IDA: Inferred from direct assay	16520378	GOA
acts upstream of or within protein deubiquitination	IMP IMP: Inferred from mutant phenotype	18388320	GOA
involved in protein deubiquitination	IMP IMP: Inferred from mutant phenotype	27302062	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	27302062	GOA
involved in regulation of protein stability	IMP IMP: Inferred from mutant phenotype	27302062	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18388320	GOA
is active in cytosol	IDA IDA: Inferred from direct assay	16520378	GOA
located in cytosol	IDA IDA: Inferred from direct assay	27444016	GOA
located in early endosome	IDA IDA: Inferred from direct assay	16520378	GOA
located in midbody	IDA IDA: Inferred from direct assay	18388320	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP8 Protein Structure

USP8_dimer

Rhodanese

UCH

0
200
400
600
800
1000
1118 a.a.

Protein Preferred Names	Protein Names
ubiquitin carboxyl-terminal hydrolase 8	deubiquitinating enzyme 8

USP8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	USP8	P40818	CHMP1A	Homo sapiens	Q9HD42	Pull Down	17711858
Intra	USP8	P40818	CHMP1A	Homo sapiens	Q9HD42	Pull Down	19302785
Intra	USP8	P40818	CHMP4C	Homo sapiens	Q96CF2	Pull Down	19302785
Intra	USP8	P40818	CHMP4C	Homo sapiens	Q96CF2	Pull Down	17711858
Intra	USP8	P40818	CHMP1B	Homo sapiens	Q7LBR1	Y2H	17711858
Intra	USP8	P40818	CHMP1B	Homo sapiens	Q7LBR1	Pull Down	17711858
Intra	USP8	P40818	CHMP1B	Homo sapiens	Q7LBR1	Pull Down	19302785
Intra	USP8	P40818	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	USP8	P40818	YWHAZ	Homo sapiens	P63104	CoIP	15324660
Intra	USP8	P40818	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	USP8	P40818	HIF1A	Homo sapiens	Q16665	Pull Down	24378640
Intra	USP8	P40818	HIF1A	Homo sapiens	Q16665	Anti Bait CoIP	24378640
Intra	USP8	P40818	EPAS1	Homo sapiens	Q99814	Pull Down	24378640
Intra	USP8	P40818	NBR1	Homo sapiens	Q14596	Y2H	19427866
Intra	USP8	P40818	NBR1	Homo sapiens	Q14596	IF	19427866
Intra	USP8	P40818	NBR1	Homo sapiens	Q14596	Pull Down	19427866

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pituitary Adenoma 4, Acth-Secreting	PITA4 Cushing Disease, Pituitary Pituitary Adenoma 4, Acth-Secreting, Somatic Cushing Disease Pituitary Cushing Disease Adenoma, Pituitary, Acth-Secreting, Type 4 Pituitary-Dependent Cushing'S Disease
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Autosomal Recessive Spastic Paraplegia Type 59	Spg59
Acth-Dependent Cushing Syndrome	Acth-Dependent Cs Adrenocorticotropic Hormone-Dependent Cushing Syndrome Corticotropin-Dependent Cushing Syndrome
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Acth-Secreting Pituitary Adenoma	Acth-Producing Pituitary Adenoma Corticotroph Adenoma Corticotropinoma Pituitary-Dependent Cushing'S Disease Adrenal Gland Hyperfunction Cushing Syndrome
Pituitary Cancer	Pituitary Carcinoma Malignant Pituitary Neoplasm Malignant Tumor Of Pituitary Gland Neoplasm Of Pituitary Gland Pituitary Gland Cancer Pituitary Gland Neoplasm Pituitary Neoplasm Carcinoma Of The Pituitary Gland Neoplasm Of The Pituitary Gland Pituitary Neoplasms Malignant Neoplasm Of Pituitary Gland
Functioning Pituitary Adenoma	Secretory Adenoma Of The Pituitary Gland Endocrine Active Pituitary Adenoma Secreting Pituitary Adenoma Pituitary Adenoma, Functioning
Pituitary Adenoma 3, Multiple Types	PITA3 Pituitary Adenoma 3, Multiple Types, Somatic Pituitary Adenoma 3
Nelson Syndrome	Nelson'S Syndrome Dermal Ridges Ridges-Off-The-End Syndrome Postadrenalectomy Cushing Syndrome
Pituitary Adenoma	Adenoma Of The Pituitary Gland Pituitary Adenomas Adenoma, Pituitary Pituitary Gland Adenoma Pituitary Neoplasms
Dicer1 Syndrome	Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome Ppb Familial Tumor Susceptibility Syndrome Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Dicer1-Related Pleuropulmonary Blastoma Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome Ppbftds Doid:0081063
Pituitary Adenoma 2, Growth Hormone-Secreting	PITA2 Acromegaly Due To Pituitary Adenoma 2 Acromegaly, X-Linked Growth Hormone Secreting Pituitary Adenoma 2 Pituitary Adenoma, Growth Hormone-Secreting, 2 Pituitary Adenoma 2, Gh-Secreting Gh-Secreting Pituitary Adenoma 2 X-Linked Acromegaly Adenoma, Pituitary, Growth Hormone-Secreting, Type 2
Pituitary Adenoma 5, Multiple Types	PITA5 Pituitary Adenoma 5 {Pituitary Adenoma 5, Multiple Types}
Pituitary-Dependent Cushing'S Disease	Pituitary-Dependent Cushing Disease Pituitary Acth Hypersecretion Overproduction Of Acth Pituitary-Dependent Cushings Disease Overproduction Of Pituitary Acth Pituitary-Dependent Hyperadrenocorticism Corticotroph Pituitary Adenoma Acth- [Adrenocorticotropic Hormone] Secreting Pituitary Adenoma Cushing Syndrome Or Disease, Pituitary-Dependent Cushings Basophilism Cushing'S Syndrome 3 Itsenko-Cushing Syndrome Itsenko Disease Pituitary Basophilism Pituitary-Dependent Hypercorticalism Suprarenogenic Syndrome Cushing Disease Cushing'S Disease
Tsh Producing Pituitary Tumor	Thyrotroph Adenoma Tsh Producing Pituitary Tumour Tsh Secreting Adenoma Of The Pituitary Tsh Secreting Tumor Of Pituitary Tsh Secreting Tumour Of Pituitary Tsh-Secreting Pituitary Adenoma Pituitary Thyrotrophic Adenoma Tsh-Oma Thyroid Stimulating Hormone-Secreting Pituitary Adenoma Thyroid Stimulating Hormone-Producing Pituitary Tumor
Papillary Craniopharyngioma	Craniopharyngioma, Papillary Papillary Rathke'S Pouch Tumor Craniopharyngioma Papillary
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
Multiple Endocrine Neoplasia, Type Iv	Multiple Endocrine Neoplasia Type 4 MEN4 Multiple Endocrine Neoplasia 4 Neoplasia, Endocrine, Multiple, Type Iv
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV
Hormone Producing Pituitary Cancer	Growth Hormone Producing Pituitary Tumor Pituitary Tumors, Hormone Producing Somatotropinoma Growth Hormone-Producing Pituitary Gland Neoplasm
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Growth Hormone Secreting Pituitary Adenoma	Somatotroph Adenoma Growth Hormone-Secreting Pituitary Adenoma Growth Hormone Producing Adenoma Of The Pituitary Growth Hormone Secreting Adenoma Of Pituitary
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162312	LLK203	Inhibitor	98.58%	Unkown
HY-151563A	OTUB1/USP8-IN-1 TFA	Inhibitor	99.56%	Unkown
HY-149902	USP8-IN-3	Inhibitor	98.37%	Unkown
HY-149901	USP8-IN-2	Inhibitor	99.91%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	USP8	VGNC	VGNC:48205
Macaca mulatta	USP8	VGNC	VGNC:78748
Felis catus	USP8	VGNC	VGNC:80811
Rattus norvegicus	USP8	RGD	RGD:1304979
Bos taurus	USP8	VGNC	VGNC:36739
Mus musculus	USP8	MGD	MGI:1934029
Others	USP8	NCBI